Arthrogryposis
Gene: FGFR2The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:18 p.m. | Last Modified: 3 Aug 2022, 3:18 p.m.
Panel Version: 3.161
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 11:29 a.m. | Last Modified: 9 Mar 2022, 11:29 a.m.
Panel Version: 3.152
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
Publications
Mode of inheritance for gene FGFR2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Green List (High Evidence).
FGFR2 was added to Arthrogryposispanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Literature
Phenotypes for FGFR2 were set to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
Publications for FGFR2 were set to 9605588
Mode of inheritance for FGFR2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
FGFR2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen
FGFR2 was created by ellenmcdonagh
FGFR2 was added to Arthrogryposispanel. Sources: Expert list